ClinVar Miner

List of variants studied for T-B- severe combined immunodeficiency by Mendelics

Included ClinVar conditions (30):

Athabaskan severe combined immunodeficiency
Cernunnos-XLF deficiency
Combined immunodeficiency due to partial RAG1 deficiency
Combined immunodeficiency due to partial RAG1 deficiency; Combined immunodeficiency with skin granulomas; Histiocytic medullary reticulosis; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Combined immunodeficiency with skin granulomas; Histiocytic medullary reticulosis; Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency; Recombinase activating gene 2 deficiency; Inborn error of immunity
Combined immunodeficiency with skin granulomas; Histiocytic medullary reticulosis; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas; Recombinase activating gene 2 deficiency; Inborn error of immunity
Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
DNA ligase IV deficiency
DNA ligase IV deficiency; Multiple myeloma
Histiocytic medullary reticulosis
Histiocytic medullary reticulosis; Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency; Recombinase activating gene 2 deficiency; Inborn error of immunity
Histiocytic medullary reticulosis; Recombinase activating gene 2 deficiency; Inborn error of immunity
Histiocytic medullary reticulosis; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive; Recombinase activating gene 2 deficiency; Inborn error of immunity
Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia
Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia
Neutrophil immunodeficiency syndrome
Neutrophil immunodeficiency syndrome; Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia; Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia
Partial adenosine deaminase deficiency
Reticular dysgenesis
Severe combined immunodeficiency due to DCLRE1C deficiency
Severe combined immunodeficiency due to DCLRE1C deficiency; Histiocytic medullary reticulosis
Severe combined immunodeficiency due to DNA-PKcs deficiency
Severe combined immunodeficiency due to LCK deficiency
Severe combined immunodeficiency, B cell-negative
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive; Recombinase activating gene 2 deficiency; Inborn error of immunity
Short-limb skeletal dysplasia with severe combined immunodeficiency

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001033855.3(DCLRE1C):c.512C>G (p.Pro171Arg)	rs35441642	0.09351
NM_000022.2(ADA):c.22G>A (p.Asp8Asn)	rs73598374	0.04175
NM_001033855.3(DCLRE1C):c.457G>A (p.Gly153Arg)	rs41297018	0.00964
NM_000022.4(ADA):c.425G>A (p.Arg142Gln)	rs61732239	0.00399
NM_002872.5(RAC2):c.545C>T (p.Thr182Met)	rs141308774	0.00012
NM_000022.4(ADA):c.715G>A (p.Gly239Ser)	rs777820729	0.00003
NM_000448.3(RAG1):c.424C>T (p.Arg142Ter)	rs773929270	0.00001
NM_002872.5(RAC2):c.364G>A (p.Asp122Asn)	rs910521882	0.00001
NM_002872.5(RAC2):c.562G>A (p.Ala188Thr)	rs758461304	0.00001
NM_000448.3(RAG1):c.2332C>T (p.Arg778Trp)	rs752020152
NM_000448.3(RAG1):c.360_367del (p.Asp121fs)	rs1590701881
NM_001033855.3(DCLRE1C):c.1691A>G (p.Glu564Gly)	rs1588892169
NM_001033855.3(DCLRE1C):c.206T>A (p.Leu69Ter)	rs1589136659

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